KCNJ2

KCNJ2 is a gene that encodes the protein Kir2.1, a member of the inward-rectifier type potassium channel family. This protein is involved in maintaining the resting membrane potential of specialized cells, such as neurons and muscle cells. Mutations in this gene have been associated with Andersen-Tawil syndrome, a rare genetic disorder characterized by periodic paralysis, cardiac arrhythmias, and distinctive facial and skeletal features.

Function

The KCNJ2 gene provides instructions for making a protein that forms a channel across the cell membrane. This channel, known as an inward rectifying potassium channel, allows potassium ions to flow into the cell. The movement of potassium ions through these channels is critical for maintaining the normal functions of muscles and nerves.

Clinical significance

Mutations in the KCNJ2 gene can lead to a variety of health conditions. Most notably, these mutations are responsible for most cases of Andersen-Tawil syndrome. This condition is characterized by episodes of muscle weakness (periodic paralysis), changes in heart rhythm (cardiac arrhythmias), and abnormalities in the structure or function of various body systems.

See also

• Andersen-Tawil syndrome
• Potassium channel
• Gene

External links

• KCNJ2 at the U.S. National Library of Medicine's Genetics Home Reference

KCNJ2 Resources
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